Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
International Society for Gastrointestinal Hereditary Tumours |
RCV000076584 | SCV000107610 | pathogenic | Lynch syndrome | 2013-09-05 | reviewed by expert panel | research | In-frame large deletion leading to protein conformational change and inactive protein |
Invitae | RCV000076584 | SCV000253807 | pathogenic | Lynch syndrome | 2015-06-04 | criteria provided, single submitter | clinical testing | This sequence change is a gross deletion of the genomic region encompassing exons 3-8 of the MSH2 gene. This deletion extends to both edges of the assayed region, and the 5' and 3' boundaries of this event are not known. However, it results in the deletion of 340 amino acid residues of the MSH2 protein. Gross deletions in MSH2 are known to be pathogenic. Several deletions encompassing exons 3-8 have been reported in the literature in patients affected with colon cancer and Lynch syndrome (PMID: 16143124, 15942939, 12658575). Experimental studies have shown that a colon cancer cell line that carries this deletion is mismatch repair deficient (PMID: 8521394, 17101317). For these reasons, this variant has been classified as Pathogenic. |
Department of Pathology and Laboratory Medicine, |
RCV000076584 | SCV000590990 | pathogenic | Lynch syndrome | 2013-07-25 | criteria provided, single submitter | clinical testing |